An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1988
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329615/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3339136/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113365
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